Variant report

Variant	nsv1022111
Chromosome Location	chr7:86918603-86966719
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:41)
LncRNA
region (count:13)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:41 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:86945551..86947910-chr7:86951997..86954266,2	MCF-7	breast:
2	chr7:86940770..86949819-chr7:87040881..87047482,46	MCF-7	breast:
3	chr7:86941299..86944197-chr7:86944457..86949884,8	MCF-7	breast:
4	chr7:86948288..86950191-chr7:86954931..86956823,2	MCF-7	breast:
5	chr7:86948288..86950191-chr7:86954931..86956823,2	MCF-7	breast:
6	chr7:86945551..86947910-chr7:86951997..86954266,2	MCF-7	breast:
7	chr7:86941299..86944197-chr7:86944457..86949884,8	MCF-7	breast:
8	chr7:86939761..86941964-chr7:86945679..86947372,2	MCF-7	breast:
9	chr7:86940013..86941754-chr7:86943366..86945178,2	K562	blood:
10	chr7:86786197..86788749-chr7:86943731..86946394,2	MCF-7	breast:
11	chr7:86933016..86934847-chr7:86945997..86948049,2	MCF-7	breast:
12	chr7:86933016..86934847-chr7:86945997..86948049,2	MCF-7	breast:
13	chr7:86960738..86962242-chr7:86964878..86967061,2	MCF-7	breast:
14	chr7:86960738..86962242-chr7:86964878..86967061,2	MCF-7	breast:
15	chr7:86941297..86942296-chr7:87045682..87046950,19	K562	blood:
16	chr7:86941043..86949081-chr7:86971937..86980200,24	MCF-7	breast:
17	chr7:86940706..86943754-chr7:87040943..87048765,8	MCF-7	breast:
18	chr7:86945673..86950114-chr7:86965968..86970483,8	MCF-7	breast:
19	chr7:86848323..86850355-chr7:86945622..86948380,3	MCF-7	breast:
20	chr7:86945090..86947270-chr7:86974590..86977054,2	K562	blood:
21	chr7:86962731..86965810-chr7:86973659..86976694,3	MCF-7	breast:
22	chr7:86965004..86967004-chr7:87042803..87044523,2	MCF-7	breast:
23	chr7:86939761..86941964-chr7:86945679..86947372,2	MCF-7	breast:
24	chr7:86941366..86942177-chr7:87136531..87137084,2	MCF-7	breast:
25	chr7:86945673..86950114-chr7:86965968..86970483,8	MCF-7	breast:
26	chr7:86945698..86948124-chr7:87141645..87143265,2	MCF-7	breast:
27	chr7:86941251..86942248-chr7:87045584..87047452,18	MCF-7	breast:
28	chr7:86952573..86954250-chr7:86973648..86976446,2	MCF-7	breast:
29	chr7:86959873..86962153-chr7:86972698..86975320,3	K562	blood:
30	chr7:86941239..86942263-chr7:87043678..87045087,6	K562	blood:
31	chr7:86946374..86948033-chr7:86980911..86983013,2	MCF-7	breast:
32	chr7:86958828..86961379-chr7:86966852..86969333,2	MCF-7	breast:
33	chr7:86940648..86950332-chr7:86969372..86978780,43	MCF-7	breast:
34	chr7:86946860..86949109-chr7:87005374..87008046,2	MCF-7	breast:
35	chr7:86946454..86949048-chr7:87033873..87037123,3	MCF-7	breast:
36	chr7:86940013..86941754-chr7:86943366..86945178,2	K562	blood:
37	chr7:86942444..86943029-chr7:87045736..87046673,2	K562	blood:
38	chr7:86945395..86947289-chr7:87038395..87040180,2	MCF-7	breast:
39	chr7:86946093..86951031-chr7:87040729..87046764,10	MCF-7	breast:
40	chr7:86941321..86942494-chr7:87045634..87046678,6	MCF-7	breast:
41	chr7:86959696..86961373-chr7:86973324..86975320,2	K562	blood:

(count:13 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ABCB4-1	chr7:86954638-86954760	NONHSAT121828
2	lnc-ABCB4-1	chr7:86954541-86954760	ENSG00000182165
3	lnc-ABCB4-1	chr7:86953598-86954760	XLOC_006516
4	lnc-ABCB4-1	chr7:86954615-86954760	ENSG00000182165
5	lnc-ABCB4-1	chr7:86954663-86954760	ENSG00000182165.13
6	lnc-ABCB4-1	chr7:86954666-86954760	ENSG00000182165
7	lnc-ABCB4-1	chr7:86954632-86954760	NONHSAT121827
8	lnc-ABCB4-1	chr7:86959386-86959410	NONHSAT121830
9	lnc-ABCB4-1	chr7:86954666-86954760	ENSG00000182165
10	lnc-ABCB4-1	chr7:86954666-86954760	XLOC_006516
11	lnc-ABCB4-1	chr7:86954379-86954760	NONHSAT121825
12	lnc-ABCB4-1	chr7:86954664-86954760	NR_015381
13	lnc-ABCB4-1	chr7:86954666-86954760	XLOC_006516

No data

Variant related genes	Relation type
ENSG00000135185	chromatin interactions
ENSG00000005469	chromatin interactions
ENSG00000182165	chromatin interactions
RAB30	miRNA target sites
FRS2	miRNA target sites
UBE3B	miRNA target sites
NAALAD2	miRNA target sites
OTUD4	miRNA target sites

Extended variants
information (count: 1248 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:1248 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11769063	chr7:86918603-86918604	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs569012701	chr7:86918607-86918608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs34823300	chr7:86918625-86918626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189614335	chr7:86918726-86918727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374753495	chr7:86918775-86918776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566998524	chr7:86918776-86918777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs375728849	chr7:86918792-86918793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534482880	chr7:86918806-86918807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571097720	chr7:86918812-86918813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559023757	chr7:86918813-86918814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369720814	chr7:86918847-86918848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537865726	chr7:86918852-86918853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556250851	chr7:86918881-86918882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574595837	chr7:86918906-86918907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535584697	chr7:86918916-86918917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs369299668	chr7:86918917-86918918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181150967	chr7:86918939-86918940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs572176725	chr7:86918988-86918989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs116613970	chr7:86918989-86918990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs564243344	chr7:86919019-86919020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139423330	chr7:86919029-86919030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576779547	chr7:86919030-86919031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1089518	chr7:86919031-86919032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs562580872	chr7:86919035-86919036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs556926833	chr7:86919048-86919049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs148099332	chr7:86919052-86919053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs199706326	chr7:86919056-86919057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs200358381	chr7:86919069-86919070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs201029588	chr7:86919070-86919071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs530128989	chr7:86919083-86919084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs199656942	chr7:86919123-86919124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560718870	chr7:86919130-86919131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575018563	chr7:86919240-86919241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373728226	chr7:86919241-86919242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184438497	chr7:86919254-86919255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188212658	chr7:86919260-86919261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs6942823	chr7:86919278-86919279	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs550282931	chr7:86919312-86919313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182041450	chr7:86919369-86919370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112834353	chr7:86919391-86919392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568109387	chr7:86919464-86919465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142290086	chr7:86919473-86919474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373034748	chr7:86919509-86919510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553620942	chr7:86919512-86919513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6943126	chr7:86919513-86919514	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs539259788	chr7:86919567-86919568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186416999	chr7:86919601-86919602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575919042	chr7:86919606-86919607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146780479	chr7:86919617-86919618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562519854	chr7:86919618-86919619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	16616336	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:588 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:86917400-86920600	Weak transcription	Right Atrium	heart
2	chr7:86918600-86919200	Enhancers	K562	blood
3	chr7:86920600-86921400	Enhancers	Esophagus	oesophagus
4	chr7:86920600-86921600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:86922200-86922600	Enhancers	Fetal Intestine Large	intestine
6	chr7:86931600-86932200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr7:86931600-86936800	Weak transcription	Right Atrium	heart
8	chr7:86939200-86940000	Enhancers	HepG2	liver
9	chr7:86940000-86940200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:86940000-86940400	Enhancers	Liver	Liver
11	chr7:86940000-86940400	Enhancers	Duodenum Mucosa	Duodenum
12	chr7:86940000-86940400	Enhancers	Small Intestine	intestine
13	chr7:86940000-86940600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:86940000-86940600	Enhancers	Fetal Intestine Large	intestine
15	chr7:86940000-86940600	Flanking Active TSS	HepG2	liver
16	chr7:86940000-86940800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:86940000-86941600	Enhancers	Fetal Intestine Small	intestine
18	chr7:86940200-86940600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:86940400-86946000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr7:86940600-86941200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:86940600-86941800	Enhancers	HepG2	liver
22	chr7:86940600-86956400	Weak transcription	Fetal Intestine Large	intestine
23	chr7:86940800-86945600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:86941200-86942000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:86941800-86942000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:86941800-86945800	Weak transcription	HepG2	liver
27	chr7:86942000-86942200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:86944800-86952400	Weak transcription	Pancreas	Pancrea
29	chr7:86945400-86945600	Enhancers	GM12878-XiMat	blood
30	chr7:86945400-86945800	Enhancers	NHEK	skin
31	chr7:86945400-86946400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr7:86945400-86946600	Enhancers	HMEC	breast
33	chr7:86945400-86947600	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr7:86945400-86948000	Enhancers	Hela-S3	cervix
35	chr7:86945400-86948800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr7:86945600-86945800	Enhancers	Esophagus	oesophagus
37	chr7:86945600-86945800	Enhancers	Lung	lung
38	chr7:86945600-86946000	Enhancers	Muscle Satellite Cultured Cells	--
39	chr7:86945600-86946000	Enhancers	A549	lung
40	chr7:86945600-86946000	Flanking Active TSS	GM12878-XiMat	blood
41	chr7:86945600-86946400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr7:86945600-86946400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr7:86945600-86946600	Enhancers	NHLF	lung
44	chr7:86945600-86946800	Enhancers	Osteobl	bone
45	chr7:86945600-86947000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr7:86945600-86947000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr7:86945600-86947200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr7:86945600-86947200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr7:86945600-86947400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr7:86945600-86947400	Enhancers	NHDF-Ad	bronchial

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